title: Association of EGFR c.2073A>T polymorphism with decreased risk of diffusely infiltrating astrocytoma in a Brazilian case-control study.
abstract: Epidermal growth factor receptor (EGFR) gene overexpression has been implicated in the development of many types of tumors, including glioblastomas, the most frequent diffusely infiltrating astrocytomas. However, little is known about the influence of the polymorphisms of EGFR on EGFR production and/or activity, possibly modulating the susceptibility to astrocytomas. This study aimed to examine the association of two EGFR promoter polymorphisms (c.-191C>A and c.-216G>T) and the c.2073A>T polymorphism located in exon 16 with susceptibility to astrocytomas, EGFR gene expression and survival in a case-control study of 193 astrocytoma patients and 200 cancer-free controls. We found that the variant TT genotype of the EGFR c.2073A>T polymorphism was associated with a significantly decreased risk of astrocytoma when compared with the AA genotype [sex- and age-adjusted odds ratio 0.51, 95% confidence interval 0.26-0.98]. No association of the two promoter EGFR polymorphisms (or combinations of these polymorphisms) and risk of astrocytomas, EGFR expression or survival was found. Our findings suggest that modulation of the EGFR c.2073A>T polymorphism could play a role in future therapeutic approaches to astrocytoma.
authors.affiliation: Department of Neurology, School of Medicine, University of São Paulo, São Paulo - Brazil.
authors.forename: K C
authors.initials: KC
authors.lastname: Barbosa
authors.forename: S M
authors.initials: SM
authors.lastname: Oba-Shinjo
authors.forename: M
authors.initials: M
authors.lastname: Uno
authors.forename: P O
authors.initials: PO
authors.lastname: Carvalho
authors.forename: S
authors.initials: S
authors.lastname: Rosemberg
authors.forename: P H P
authors.initials: PH
authors.lastname: Aguiar
authors.forename: C G
authors.initials: CG
authors.lastname: Carlotti
authors.forename: S M F
authors.initials: SM
authors.lastname: Malheiros
authors.forename: S
authors.initials: S
authors.lastname: Toledo
authors.forename: P
authors.initials: P
authors.lastname: Lotufo
authors.forename: S K N
authors.initials: SK
authors.lastname: Marie
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001254:Astrocytoma / Q000208:ethnology / Q000235:genetics*; D001932:Brain Neoplasms / Q000208:ethnology / Q000235:genetics*; D001938:Brazil; D016022:Case-Control Studies; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D016896:Treatment Outcome
chemical_list: D066246:ErbB Receptors